Pamela Marshall has been the Support Group Coordinator for the Global Foundation for Peroxisomal Disorders (GFPD) since 2010. Pamela first became involved with the GFPD through a parent email group after her son, Ethan, was diagnosed with peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) in August 2010. PBD-ZSD is sometimes referred to as Zellweger syndrome, neonatal adrenoleukodystrophy, Infantile refsum disease, Heimler syndrome, Zellweger syndrome spectrum and Zellweger spectrum disorder. Through the parent group, she met Melissa Bryce Gamble and Shannon Butalla, the co-founders of the GFPD. Pamela was grateful to be connected to other families, but she saw an unmet need in that a list had not been compiled yet of all the PBD-ZSD families. So, she created one. This first excel spreadsheet list became the basis for the GFPD’s family registry that continues to connect families across the world.
“Since shortly after Ethan’s diagnosis, connecting families became a personal mission of mine,” says Pamela. “I might not be able to cure my son, but I can try my best to help other families know that they are not alone.”
Pamela’s mission became searching for families facing the challenging diagnosis alone and letting them know they had an entire community of support waiting at the GFPD.
Pamela scours the internet, especially social media platforms, for these families. After she contacts them, she sends the families welcome packets and immediately provides the family with information about a parent support group.
“The nearly eight years that Pamela Marshall has spent working to find and connect families has been crucially important to the growth of the GFPD as we work to further our mission to support families around the world,” says Executive Director Melissa Bryce Gamble.
“Each time a new family finds us,” Pamela says, “It is exciting because we know that one less family has to face this diagnosis alone.” Pamela also comments on the sorrow that often surrounds welcoming a new family, “Many times, the GFPD doesn’t get the opportunity to connect with families until after the child has passed.” However, through the heartbreak, she remains optimistic, “Hopefully, in the near future as more states and countries adopt newborn screening for Adrenoleukodystrophy (ALD) and related peroxisomal disorders the GFPD will be able to connect with more families within weeks of their initial diagnosis.”
Throughout the years, Pamela frequently is the first person that families talk to who “gets it.” Each family has their own individual experiences and their own struggles, but Pamela sees the GFPD as a family: “It is almost like finding a long lost relative—we are a family.”
Currently, she is working on hosting several regional family meetups. In the past, the biennial GFPD conference has been the only event that brought families together. Now, the possibility of having the opportunity for families to meet outside of that is exciting. “Regional meetups have been a dream of mine for a long time,” she tells us.
“Pamela has been a tremendous resource to the families connected through the GFPD,” Mrs. Gamble states. “Without her, the GFPD would not have been able to grow to what it has—a community of over 400 families in 39 countries around the world supporting one another through an incredibly difficult journey.”
This post was edited on June 20, 2018